Variant report

Variant	nsv947380
Chromosome Location	chr1:216946923-216954429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:216953560..216955161-chr1:216958720..216961242,2	MCF-7	breast:

Extended variants
information (count: 378 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370457469	chr1:216946957-216946958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563186391	chr1:216946968-216946969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573572481	chr1:216946970-216946971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542392714	chr1:216946998-216946999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559470649	chr1:216947014-216947015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528167416	chr1:216947037-216947038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74141649	chr1:216947042-216947043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565437294	chr1:216947048-216947049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531114282	chr1:216947074-216947075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182098015	chr1:216947091-216947092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567590322	chr1:216947125-216947126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11117673	chr1:216947142-216947143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11811887	chr1:216947177-216947178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533163358	chr1:216947209-216947210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1361330	chr1:216947269-216947270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190715816	chr1:216947316-216947317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557533389	chr1:216947405-216947406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529465046	chr1:216947406-216947407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571417058	chr1:216947430-216947431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536986069	chr1:216947435-216947436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557209076	chr1:216947556-216947557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149282428	chr1:216947587-216947588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73093994	chr1:216947590-216947591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549241387	chr1:216947609-216947610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552971191	chr1:216947696-216947697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572982162	chr1:216947726-216947727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371662905	chr1:216947732-216947733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114827054	chr1:216947733-216947734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144488268	chr1:216947739-216947740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569322983	chr1:216947740-216947741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184052584	chr1:216947780-216947781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544612970	chr1:216947806-216947807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561604650	chr1:216947807-216947808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530301331	chr1:216947808-216947809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188548371	chr1:216947821-216947822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72739417	chr1:216947837-216947838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79841592	chr1:216947852-216947853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552243480	chr1:216947862-216947863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551362935	chr1:216947864-216947865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148410900	chr1:216947890-216947891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571265357	chr1:216947923-216947924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191762274	chr1:216947936-216947937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550674408	chr1:216947941-216947942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556851725	chr1:216947965-216947966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113061345	chr1:216947975-216947976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183111195	chr1:216948043-216948044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142522812	chr1:216948044-216948045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553005657	chr1:216948066-216948067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572870841	chr1:216948077-216948078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147131907	chr1:216948102-216948103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216897400-216958600	Weak transcription	Pancreas	Pancrea
2	chr1:216939800-216958600	Weak transcription	Psoas Muscle	Psoas
3	chr1:216941400-216951400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:216944000-216951600	Weak transcription	Aorta	Aorta
5	chr1:216946000-216947600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:216947600-216947800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:216949400-216950400	Enhancers	Fetal Heart	heart
8	chr1:216949600-216949800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:216950400-216953000	Weak transcription	Fetal Heart	heart
10	chr1:216950600-216950800	Enhancers	Fetal Lung	lung
11	chr1:216950800-216953000	Weak transcription	Fetal Lung	lung
12	chr1:216951400-216952000	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr1:216951600-216952000	ZNF genes & repeats	Aorta	Aorta
14	chr1:216952000-216952600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:216952000-216958600	Weak transcription	Aorta	Aorta
16	chr1:216953000-216953200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:216953000-216953400	Enhancers	Fetal Heart	heart
18	chr1:216953000-216954200	Enhancers	Fetal Lung	lung
19	chr1:216953200-216954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:216953400-216953600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:216953400-216958600	Weak transcription	Fetal Heart	heart
22	chr1:216953800-216955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:216954200-216957800	Weak transcription	Fetal Lung	lung

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